A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

A 3-year-old Tanzanian female presented with severe hemolytic anemia of unknown etiology, necessitating multiple red blood cell transfusions. The patient was found to have glucose-6-phosphate dehydrogenase (G6PD) deficiency A- and a heterozygous Piezo-type mechanosensitive ion channel component 1 (PIEZO1) mutation (2744A>G, N915S). This case identifies a novel PIEZO1 mutation implicated in erythrocyte channelopathies occurring in conjunction with an X-linked enzymopathy in a female patient. This underscores the importance of keeping X-linked disorders in the differential diagnosis of hemolytic anemia in females, as well as presents the possibility for novel coexisting mutations to augment the phenotype. [ABSTRACT FROM AUTHOR]